A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983360



Internal ID18271868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104264356..104270794hg38UCSC Ensembl
Innerchr12:104658134..104664572hg19UCSC Ensembl
Innerchr12:103182264..103188702hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386439
hg196439
hg186439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1942990, nssv1942985, nssv1942986, nssv1942987, nssv1942984, nssv1942991, nssv1942982, nssv1942983, nssv1942989, nssv1942988
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesTXNRD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983360
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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